Varaico: Literature-Extracted Genetic Variants

CACNA2D1

224 papers

RefSeq Summary

The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influ...

Pfam Domains

VWA_Naa 104–223UCSCVWA N-terminal

VWAaa 253–425UCSCvon Willebrand factor type A domain

VGCC_alpha2aa 644–1072UCSCNeuronal voltage-dependent calcium channel alpha 2acd

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit alpha2delta 1

HGNC Previous Symbols

CACNL2A; CACNA2; MHS3; LINC01112

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000722.4

p.K319Q

c.955A>C

Surrounding Variants

1 paper

NM_000722.4

p.L318*

c.953T>A

1 paper

NM_000722.4

p.I325T

c.974T>C

1 paper

NM_000722.4

p.C303W

c.909T>G

1 paper

NM_000722.4

p.S302C

c.904A>T

1 paper

NM_000722.4

p.N295Y

c.883A>T

1 paper

NM_000722.4

p.N295H

c.883A>C

1 paper

NM_000722.4

p.N346_Y347Splc

c.1038+8T>C

7 papers

NM_000722.4

p.R351T

c.1052G>C

1 paper

NM_000722.4

p.K356E

c.1066A>G

1 paper

NM_000722.4

p.N374T

c.1121A>C